ClinVar Miner

Submissions for variant NM_000077.5(CDKN2A):c.59C>T (p.Ala20Val)

dbSNP: rs864622484
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001297446 SCV001486458 uncertain significance Familial melanoma 2023-02-23 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1001191). This variant has not been reported in the literature in individuals affected with CDKN2A (p16INK4a)-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 20 of the CDKN2A (p16INK4a) protein (p.Ala20Val).
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268467 SCV002550366 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing

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